VSNL1

Gene Information
 
Gene Symbol
VSNL1
 
Aliases
HLP3, HPCAL3, HUVISL1, VILIP, VILIP-1
 
Entrez Gene ID
 
Gene Name
Visinin like 1
 
Chromosomal Location
2p24.2
 
HGNC ID
 
Summary
This gene is a member of the visinin/recoverin subfamily of neuronal calcium sensor proteins. The encoded protein is strongly expressed in granule cells of the cerebellum where it associates with membranes in a calcium-dependent manner and modulates intracellular signaling pathways of the central nervous system by directly or indirectly regulating the activity of adenylyl cyclase. Alternatively spliced transcript variants have been observed, but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0005515 Molecular function Protein binding IPI 16189514, 25416956, 32296183
Protein Information
 
Protein Name
Visinin-like protein 1, VLP-1, hippocalcin-like protein 3
 
Function
Regulates (in vitro) the inhibition of rhodopsin phosphorylation in a calcium-dependent manner.
 
UniProt
     
References
 
 
PubMed ID Disease SNP/Mutation Study population Ethnicity Age of study population Type of sample
Central precocious puberty (CPP) and Sexual precocity 
 
Test subject-Girls: 2, Boys: 1 (CPP+ HH) Control- Boys: 2 (HH) 
 
3- 5 years (age at the onset of puberty) 
Hypothalamic hamartomas

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